Journal of Human Genetics and Genomics
Volume:5 Issue: 1, Jun 2021

Autism spectrum disorder(ASD) is a complicated neurodevelopmental disease with social communication disorder, language problem and restricted repetitive patterns and restricted repetitive patterns of behavior, activities and interests. Attention deficit hyperactivity disorder (ADHD) is a pediatric psychiatric disorder with symptoms including attention deficit, hyperactivity, and impulsiveness, which can persist into adult life. SHANK gene family encodes Shank proteins that are multidomain scaffold proteins involved in binding of the postsynaptic density in neurotransmitter receptors, ion channels and several G-protein-coupled signaling pathways. SHANK3, also known as proline-rich synapse associated protein 2 (ProSAP2), is a protein encoded by the SHANK3 gene located in human chromosome 22, play an essential role in synapse formation spine maturation and scaffold activity.

In present study the expression level of SHANK3 in ASD and ADHD patients  was assessed.

 mRNA level of the SHANK3 were evaluated in peripheral blood of 450 unrelated ASD patients, 450 unrelated ADHD patients and the normal group included 490 unrelated non-psychiatric children by quantitative RT-PCR. In addition, gene expression and their correlation with clinical symptoms were examined.

Showed mRNA level of SHANK3 gene was significantly down-regulated in ASD patients vs. normal children. In ADHD, a significant reduction of SHANK3 expression was also detected comparing to normal children.

The SHANK family specially SHANK3 gene may play an essential role in the etiology of ASD and ADHD. Findings also may reveal a shared genetic basis in two neurodevelopment disorders related to synaptic pathways.

During research on lymphoma and its malignancies, scientists have traced the role of the angiogenesis index in patient survival. Epstein-Barr virus (EBV) is a human tumor-causing virus that targets B lymphocytes and causes persistent infection. This virus is also associated with malignancies, such as Burkitt's lymphoma. Using herbal medicines to treat cancer and angiogenesis has been considered, due to the side effects of chemical drugs. This experimentation aimed to research the antiviral impact of nano-curcumin on the Daudi cell line (which belongs to Burkitt's lymphoma) and to evaluate the expression of the vascular endothelial growth factor (VEGF) gene.

The cytotoxicity of nano curcumin, curcumin, and dendrosome on Daudi cells and normal human lymphocytes was evaluated using an MTT assay. Cellular apoptosis was assessed by Annexin / PI flow cytometry. The VEGF angiogenesis gene expression was performed by real-time PCR.

The 50% cytotoxic concentration (CC50) was determined 30 μg/ml for dendrosomal nano-curcumin, 50 μg/ml for curcumin, and 987 μg/ml for dendrosome in the Daudi cell line.Dendrosomal nano curcumin (DNC) caused time and dose-dependent death in Daudi cancer cells compared to curcumin. Dendrosome did not show toxicity on control cells. The results of Flow cytometry are constant with the results of the MTT test. The data obtained from the real-time PCR showed a significant decrease in the expression of the VEGF gene (P <0.01).

The dendrosomal nano curcumin is involved in angiogenesis by reducing the expression of the VEGF gene, and can be a good candidate as a supplement drug in the chemotherapy treatment of Burkitt's lymphoma.

Background :

The Helicobacter pylori (H. pylori) is a spiral-shaped, gram-negative, motile and microaerophilic bacterium in which the human stomach is the single natural reservoir.

This review study indicates the possible contribution of H. pylori infection as one of the recognized vital agents for the development of gastric malignancies.

Journal online databases such as Science Direct, PubMed, Google Scholar, and Wiley Online Library were investigated through keywords “Helicobacter pylori”, “Gastric Malignancy”, “Gene therapy” and “Nanotechnology”. Studies were subjected to the present review study if they met our relevance and quality criteria.

We will discuss different virulence elements of H. pylori comprising cytotoxin-related gene A, vacuolating cytotoxin A, as well as various outer membrane proteins leading to malignancy through various mechanisms.

We also provide insight into the possible presence and role of a gastric malignancy stem cell in the tumors with the capability to initiate sustain self-renewal and tumor growth and novel strategies against H. pylori such as gene therapy, immunotherapy, immunoinformatics, antibiotic resistance, and nanotechnology aimed to provide a rationale view for new therapeutic approaches that are reviewed in the current study.

MicroRNAs (miRNAs) are Endogenous, non-coding, single-stranded short RNAs regulatory RNAs are involved in a number of biological processes. The aim of this study was to study the direct differentiation of human fibroblast cells into erythrocytes by inducing electromagnetic waves using miR-451 and miR-16 in α chains.

In the present experimental study, human fibroblasts are radiated with 5, 10 and 15 mT electromagnetic field. Given that the best results are obtained with an intensity of 10 mT, so this test is performed by radiating 10 mT of Tesla's electromagnetic field. Then they were divided into 10 study groups. After cell culture, expression of miR-16 and miR-451 that were-radiated by RT-PCR.

Our results confirmed that the simultaneous regulation of miR-16 and miR-451 stimulates the expression of genes involved in the erythroid differentiation pathway with greater potency.

Our results showed that the electromagnetic field on the erythroid lineage of radiated human fibroblasts can have a great effect on increasing the expression of miR-451 and miR-16. Although this method requires further studies, but positive results can be increased. The expression of the studied genes can be suitable for research studies of hematopoietic stem cells.

Etiology of Congenital heart defects (CHD), especially Atrio-Ventricular Septal Defect (AVSD) among the individuals with Down syndrome (DS) is enigmatic and may differ across the population divides owing to ethnicity and sociocultural differences. The polymorphisms of folate pathway regulators MTHFR and RFC1 as risk of AVSD among DS individuals from Indian Bengali cohort has not been explored yet.

Aim of the present study is to investigate the association of MTHFR C677T and RFC1 A80G polymorphisms with the incidence of AVSD among individuals with DS in the Indian Bengali cohort.

Genotyping was done by bi-directional Sanger sequencing of DNA samples from DS with AVSD (N=479; ‘DS-AVSD’), DS without AVSD (N=540; ‘DS’), karyotypically confirmed euploid with AVSD (N=321; ‘Control-AVSD’) and euploid without AVSD (N=409; ‘Control’).  Odds ratio (OR) was calculated to infer degree of risk imposed by alleles and genotypes. Functional implications of polymorphisms were inferred using Project HOPE server.

RFC1 A80G polymorphisms was found to be significantly associated with DS-AVSD when compared with control (p = 0.0001; p< 0.0001), control-AVSD (p=0.0004; p< 0.0001) and DS (p< 0.0001) groups. MTHFR C677T showed significant association with DS-AVSD in comparison to control only (p=0.0004; p< 0.0001). We also found elevated risk of AVSD among DS when both the polymorphisms are present together. In-silico analyses suggest probable amino acid replacement and subsequent compromised functions of the genes that may results in AVSD.

Our study suggests the RFC1 A80G polymorphism is a significant risk for developing AVSD among the individuals with DS from Indian Bengali population. The MTHFR C677T polymorphism increases risk when present together with RFC1 A80G polymorphism.